ClinVar for OMIM (Select 139320) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 624627	NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys)	SASH1 (E509K +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624626	NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro)	SASH1 (L515P +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 624625	NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp)	SASH1 (Y551D +5 more)	Single nucleotide variant (missense variant)	Dyschromatosis universalis hereditaria 1	GLikely pathogenic
Select item 222985	NM_153447.4(NLRP5):c.2353C>T (p.Gln785Ter)	NLRP5 (Q785*)	Single nucleotide variant (nonsense)	Toriello-Lacassie-Droste syndrome	GUncertain significance
Select item 17746	NM_000684.3(ADRB1):c.1165G>C (p.Gly389Arg)	ADRB1 (G389R)	Single nucleotide variant (missense variant)	ADRB1-related disorder	GBenign
Select item 10845	NM_000054.7(AVPR2):c.253G>A (p.Asp85Asn)	AVPR2 (D85N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 6437	NM_000369.5(TSHR):c.1897G>C (p.Asp633His)	TSHR (D633H)	Single nucleotide variant (missense variant)	THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC	GPathogenic

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